卡尼复合体:双侧乳腺肌样纤维腺瘤病例报告。

IF 0.4 Q4 SURGERY Case Reports in Plastic Surgery and Hand Surgery Pub Date : 2024-05-06 eCollection Date: 2024-01-01 DOI:10.1080/23320885.2024.2347653
Demetris Savva, Andreas Vassiliou, Elena Theophanous, Marios Loizou, Anneza Yiallourou
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引用次数: 0

摘要

卡尼综合征是一种罕见的常染色体显性遗传的多发性肿瘤综合征,合并心皮肤表现。我们的报告描述了一个患有双侧肌样纤维腺瘤的卡尼综合征病例,该病例导致了双侧乳房切除术。一名 18 岁的女性患者来我院就诊,主诉双侧乳房有多个可触及的肿块。经体格检查,患者的面部、身体和巩膜上还有多处色素性皮损,躯干和上肢有蓝色痣,脸呈圆月形。经过影像学检查、活组织检查和基因分析,最终确诊为卡尼综合征。作为预防性治疗方案,患者接受了双侧乳房切除术,并植入了组织扩张器。卡尼综合征导致的乳腺肌瘤病是女性患者的常见特征。在这些病例中,必须将预防性乳房切除术视为一种治疗干预措施,因为它提供了一种明确的治疗方法,副作用极小,疗效极佳。
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Carney complex: a case report of bilateral breast myxoid fibroadenomas.

Carney complex is a rare autosomal dominant familiar multiple neoplasia syndrome combined with cardiocutaneous manifestations. Our report describes a Carney complex case with bilateral myxoid fibroadenomas that led to a bilateral mastectomy. An 18-year-old female patient presented at our clinic with complaints of multiple palpable lumps in her breasts bilaterally. On physical examination the patient had also multiple pigmented lentiginous lesions on her face, body and her sclerae, blue nevi on her trunk and upper extremities and a round moon-shaped face. The diagnosis of Carney syndrome was decided upon imaging, biopsies and genetic analysis. The patient underwent a bilateral mastectomy as a prophylactic treatment plan with tissue expanders' placement. Breast myxomatosis due to Carney complex is a common characteristic in female patients. Prophylactic mastectomy must be considered as a therapeutic intervention in these cases since it provides a definite treatment, with minimal side effects and excellent outcomes.

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CiteScore
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